PMC Articles for MedGen (Select 369694) - PMC

Takenori Tozawa, Kenji Yokochi, Satoshi Kono, Takashi Konishi, Toshiyuki Yamamoto, Akira Nishimura, Tomohiro Chiyonobu, Masafumi Morimoto, Hajime Hosoi

Child Neurol Open. 2016 Jan-Dec; 3: 2329048X16665012. Published online 2016 Aug 24. doi: 10.1177/2329048X16665012

PMCID:: PMC5417288

Abstract Article PDF–197K

Select item 63355334.

Is Benign Hereditary Chorea Really Benign? Brain‐Lung‐Thyroid Syndrome Caused by NKX2‐1 Mutations

Mered Parnes, Hassaan Bashir, Joseph Jankovic

Mov Disord Clin Pract. 2019 Jan; 6(1): 34–39. Published online 2018 Nov 9. doi: 10.1002/mdc3.12690

PMCID:: PMC6335533

Abstract Article PDF–262K

Select item 69240845.

A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu, Chanjuan Hao

Mol Cytogenet. 2019; 12: 51. Published online 2019 Dec 19. doi: 10.1186/s13039-019-0463-z

PMCID:: PMC6924084

Abstract Article PDF–1.0M

Select item 80160986.

Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency

Krystyna Ediger, Anne Hicks, Komudi Siriwardena, Chloe Joynt

BMJ Case Rep. 2021; 14(3): e241032. Published online 2021 Mar 31. doi: 10.1136/bcr-2020-241032

PMCID:: PMC8016098

Abstract Article PDF–172K

Select item 82519157.

NKX2.1 run‐on mutation associated to familial brain–lung–thyroid syndrome

Elena Cavaliere, Anna Jolanda Gortan, Nadia Passon, Dora Fabbro, Dario Marin, Miryam Carecchio, Federica Baldan, Sara Carmela Credendino, Rosa Gallo, Paola Cogo, Giuseppe Damante, Gabriella De Vita

Clin Genet. 2021 Jul; 100(1): 114–116. Published online 2021 Mar 29. doi: 10.1111/cge.13961

PMCID:: PMC8251915

Abstract Article PDF–642K

Select item 31797248.

Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect

Donatella Peca, Stefania Petrini, Chryssoula Tzialla, Renata Boldrini, Francesco Morini, Mauro Stronati, Virgilio P Carnielli, Paola E Cogo, Olivier Danhaive

Respir Res. 2011; 12(1): 115. Published online 2011 Aug 25. doi: 10.1186/1465-9921-12-115

PMCID:: PMC3179724

Abstract Article PDF–2.5M

Select item 113658279.

Differential diagnosis of Huntington’s disease− neurological aspects of NKX2-1-related disorders

Julia Skwara, Maciej Nowicki, Lucia Sharif, Łukasz Milanowski, Jarosław Dulski, Ewelina Elert-Dobkowska, Katarzyna Skrzypek, Dorota Hoffman-Zacharska, Dariusz Koziorowski, Jarosław Sławek

J Neural Transm (Vienna) 2024; 131(9): 1013–1024. Published online 2024 Jun 25. doi: 10.1007/s00702-024-02800-3

PMCID:: PMC11365827

Abstract Article PDF–2.1M

Select item 722068810.

Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report

Rui Gu, Guangyong Ye, Yimin Zhou, Zhou Jiang

Medicine (Baltimore) 2020 Mar; 99(12): e19650. Published online 2020 Mar 20. doi: 10.1097/MD.0000000000019650

PMCID:: PMC7220688

Abstract Article PDF–631K

Select item 896056611.

Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations

Steffi Thust, Liana Veneziano, Michael H. Parkinson, Kailash P. Bhatia, Elide Mantuano, Cristina Gonzalez-Robles, Indran Davagnanam, Paola Giunti

Neurogenetics. 2022; 23(2): 91–102. Published online 2022 Jan 25. doi: 10.1007/s10048-021-00680-3

PMCID:: PMC8960566

Abstract Article PDF–1.1M

Select item 988843012.

Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant

Céline Delestrain, Abdel Aissat, Elodie Nattes, Isabelle Gibertini, Valérie Lacroze, Stéphanie Simon, Xavier Decrouy, Alix de Becdelièvre, Pascale Fanen, Ralph Epaud

Front Pediatr. 2022; 10: 978598. Published online 2023 Jan 17. doi: 10.3389/fped.2022.978598

PMCID:: PMC9888430

Abstract Article PDF–3.1M

Select item 1088384713.

Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions

Osamu Machida, Haruko Sakamoto, Keiko Shimojima Yamamoto, Yuiko Hasegawa, Satoi Nii, Hidenori Okada, Kazuki Nishikawa, Shin-Ichi Sumimoto, Eriko Nishi, Nobuhiko Okamoto, Toshiyuki Yamamoto

Intractable Rare Dis Res. 2024 Feb; 13(1): 36–41. doi: 10.5582/irdr.2023.01119

PMCID:: PMC10883847

Abstract Article PDF–633K

Select item 1036358414.

NK2 homeobox gene cluster: Functions and roles in human diseases

Catia Mio, Federica Baldan, Giuseppe Damante

Genes Dis. 2023 Sep; 10(5): 2038–2048. Published online 2022 Oct 11. doi: 10.1016/j.gendis.2022.10.001

PMCID:: PMC10363584

Abstract Article PDF–1.1M

Select item 1013319515.

Unlocking the Potential of Induced Pluripotent Stem Cells for Neonatal Disease Modeling and Drug Development

Ziyi Liu, Bonny Lami, Laertis Ikonomou, Mingxia Gu

Semin Perinatol. Author manuscript; available in PMC 2024 Apr 1.

Published in final edited form as: Semin Perinatol. 2023 Apr; 47(3): 151729. Published online 2023 Mar 11. doi: 10.1016/j.semperi.2023.151729

PMCID:: PMC10133195

Abstract Article PDF–378K

Select item 948762516.

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

Jayesh M. Bhatt, Andrew Bush, Marjo van Gerven, Andreea Nissenkorn, Michael Renke, Lian Yarlett, Malcolm Taylor, Thomy Tonia, Adilia Warris, Stefan Zielen, Shairbanu Zinna, Peter J.F.M. Merkus

Eur Respir Rev. 2015 Dec; 24(138): 565–581. doi: 10.1183/16000617.0066-2015